ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.578G>A (p.Arg193His)

dbSNP: rs765824169
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811836 SCV000952123 uncertain significance Carnitine palmitoyltransferase II deficiency 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 193 of the CPT2 protein (p.Arg193His). This variant is present in population databases (rs765824169, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 655618). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CPT2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002478883 SCV002775050 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487771 SCV002792929 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2021-08-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453704 SCV004179354 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453701 SCV004179355 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453703 SCV004179356 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453702 SCV004179357 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000811836 SCV001454228 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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